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Congenital brain dysgenesis due to glutamine synthetase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal dominant spastic paraplegia type 13
1 OMIM reference -
1 associated gene
No signs/symptoms info
Congenital brain dysgenesis due to glutamine synthetase deficiency
Autosomal dominant spastic paraplegia type 13

GLUL
(UniProt - OMIM)
 HSPD1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
GLUL
(0.63)
HSPD1


Citations in the biomedical literature:


Congenital brain dysgenesis due to glutamine synthetase deficiency
GLUL
Autosomal dominant spastic paraplegia type 13
HSPD1



Congenital brain dysgenesis due to glutamine synthetase deficiency
Autosomal dominant spastic paraplegia type 13

Synonym(s):
- Inherited GS deficiency
- Inherited glutamine synthetase deficiency
Synonym(s):
- SPG13
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537485
No signs/symptoms info available.